Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0004322 | HP:0004322 | Short stature | 0 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 789 | 23336 | 610627 |
HP:0004322 | HP:0004322 | Short stature | 0 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 916 | 23336 | 610627 |
HP:0004322 | HP:0004322 | Short stature | 0 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 162 | 13666 | 605378 |
HP:0004322 | HP:0004322 | Short stature | 0 | AAAS CL E G H | 8086 | 869 | | | | ORPHA | 1 | | 174 | 13666 | 605378 |
HP:0004322 | HP:0004322 | Short stature | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 162 | 13666 | 605378 |
HP:0004322 | HP:0004322 | Short stature | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 174 | 13666 | 605378 |
HP:0004322 | HP:0004322 | Short stature | 0 | AARS CL E G H | 16 | 616339 | Epileptic encephalopathy, early infantile, 29 | 616339 | C4225361 | OMIM | 1 | | | 20 | 601065 |
HP:0004322 | HP:0004322 | Short stature | 0 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 97 | 17366 | 605113 |
HP:0004322 | HP:0004322 | Short stature | 0 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 108 | 17366 | 605113 |
HP:0004322 | HP:0004322 | Short stature | 0 | ABCB11 CL E G H | 8647 | 601847 | Progressive familial intrahepatic cholestasis 2 | 601847 | C3489789 | OMIM | 1 | | 762 | 42 | 603201 |
HP:0004322 | HP:0004322 | Short stature | 0 | ABCB11 CL E G H | 8647 | 601847 | Progressive familial intrahepatic cholestasis 2 | 601847 | C3489789 | OMIM | 1 | | 808 | 42 | 603201 |
HP:0004322 | HP:0004322 | Short stature | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 173 | 21396 | 604780 |
HP:0004322 | HP:0004322 | Short stature | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 184 | 21396 | 604780 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACAN CL E G H | 176 | 165800 | Osteochondritis dissecans | 165800 | C0029421 | OMIM | 1 | | 359 | 319 | 155760 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACAN CL E G H | 176 | 165800 | Osteochondritis dissecans | 165800 | C0029421 | OMIM | 1 | | 456 | 319 | 155760 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACP5 CL E G H | 54 | 607944 | Spondyloenchondrodysplasia with immune dysregulation | 607944 | C1842763 | OMIM | 1 | | 149 | 124 | 171640 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACP5 CL E G H | 54 | 607944 | Spondyloenchondrodysplasia with immune dysregulation | 607944 | C1842763 | OMIM | 1 | | 197 | 124 | 171640 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 322 | 132 | 102630 |
HP:0004322 | HP:0004322 | Short stature | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 349 | 132 | 102630 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAMTS10 CL E G H | 81794 | 3449 | Mehes syndrome | | | ORPHA | 1 | | 241 | 13201 | 608990 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAMTS10 CL E G H | 81794 | 3449 | Mehes syndrome | | | ORPHA | 1 | | 363 | 13201 | 608990 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAMTS17 CL E G H | 170691 | 613195 | Weill-Marchesani-like syndrome | 613195 | C2750787 | OMIM | 1 | | 599 | 17109 | 607511 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAMTS17 CL E G H | 170691 | 613195 | Weill-Marchesani-like syndrome | 613195 | C2750787 | OMIM | 1 | | 751 | 17109 | 607511 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 920 | 218 | 604539 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAMTS2 CL E G H | 9509 | 225410 | Ehlers-Danlos syndrome, type vii, autosomal recessive | 225410 | C2700425 | OMIM | 1 | | 1000 | 218 | 604539 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 242 | 14631 | 612277 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAMTSL2 CL E G H | 9719 | 231050 | Geleophysic dysplasia 1 | 231050 | C3278147 | OMIM | 1 | | 244 | 14631 | 612277 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 251 | 15766 | 611386 |
HP:0004322 | HP:0004322 | Short stature | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 15766 | 611386 |
HP:0004322 | HP:0004322 | Short stature | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 112 | 17869 | 604417 |
HP:0004322 | HP:0004322 | Short stature | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 157 | 17869 | 604417 |
HP:0004322 | HP:0004322 | Short stature | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 330 | 318 | 613228 |
HP:0004322 | HP:0004322 | Short stature | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 355 | 318 | 613228 |
HP:0004322 | HP:0004322 | Short stature | 0 | AGL CL E G H | 178 | 366 | Arnold Stickler Bourne syndrome | | | ORPHA | 1 | | 1299 | 321 | 610860 |
HP:0004322 | HP:0004322 | Short stature | 0 | AGL CL E G H | 178 | 366 | Arnold Stickler Bourne syndrome | | | ORPHA | 1 | | 1529 | 321 | 610860 |
HP:0004322 | HP:0004322 | Short stature | 0 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1299 | 321 | 610860 |
HP:0004322 | HP:0004322 | Short stature | 0 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 1529 | 321 | 610860 |
HP:0004322 | HP:0004322 | Short stature | 0 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALDH18A1 CL E G H | 5832 | 601162 | Spastic paraplegia 9 | 601162 | C1832669 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALDH3A2 CL E G H | 224 | 270200 | Sjögren-Larsson syndrome | 270200 | C0037231 | OMIM | 1 | | 437 | 403 | 609523 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALDH3A2 CL E G H | 224 | 270200 | Sjögren-Larsson syndrome | 270200 | C0037231 | OMIM | 1 | | 475 | 403 | 609523 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALDOA CL E G H | 226 | 611881 | HNSHA due to aldolase A deficiency | 611881 | C0272066 | OMIM | 1 | | 353 | 414 | 103850 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALDOA CL E G H | 226 | 611881 | HNSHA due to aldolase A deficiency | 611881 | C0272066 | OMIM | 1 | | 381 | 414 | 103850 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 1 | | 2504 | 428 | 606844 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALMS1 CL E G H | 7840 | 64 | | | | ORPHA | 1 | | 3342 | 428 | 606844 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALPL CL E G H | 249 | 241510 | Childhood hypophosphatasia | 241510 | C0220743 | OMIM | 1 | | 575 | 438 | 171760 |
HP:0004322 | HP:0004322 | Short stature | 0 | ALPL CL E G H | 249 | 241510 | Childhood hypophosphatasia | 241510 | C0220743 | OMIM | 1 | | 671 | 438 | 171760 |
HP:0004322 | HP:0004322 | Short stature | 0 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 245 | 26837 | 300647 |
HP:0004322 | HP:0004322 | Short stature | 0 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 263 | 26837 | 300647 |
HP:0004322 | HP:0004322 | Short stature | 0 | AMPD2 CL E G H | 271 | 401805 | | | | ORPHA | 1 | | 172 | 469 | 102771 |
HP:0004322 | HP:0004322 | Short stature | 0 | AMPD2 CL E G H | 271 | 401805 | | | | ORPHA | 1 | | 230 | 469 | 102771 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 567 | 492 | 612641 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 604 | 492 | 612641 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANKLE2 CL E G H | 23141 | 2512 | | | | ORPHA | 1 | | 184 | 29101 | 616062 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANKLE2 CL E G H | 23141 | 2512 | | | | ORPHA | 1 | | 189 | 29101 | 616062 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 184 | 29101 | 616062 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 189 | 29101 | 616062 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1101 | 21316 | 611192 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANKRD11 CL E G H | 29123 | 2332 | | | | ORPHA | 1 | | 1184 | 21316 | 611192 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1101 | 21316 | 611192 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1184 | 21316 | 611192 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 83 | 21014 | 606410 |
HP:0004322 | HP:0004322 | Short stature | 0 | ANTXR1 CL E G H | 84168 | 2067 | | | | ORPHA | 1 | | 84 | 21014 | 606410 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 189 | 572 | 607245 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 254 | 572 | 607245 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 238 | 573 | 607244 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 332 | 573 | 607244 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4E1 CL E G H | 23431 | 613744 | Spastic paraplegia 51, autosomal recessive | 613744 | C3151056 | OMIM | 1 | | 238 | 573 | 607244 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4E1 CL E G H | 23431 | 613744 | Spastic paraplegia 51, autosomal recessive | 613744 | C3151056 | OMIM | 1 | | 332 | 573 | 607244 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 199 | 574 | 602296 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 264 | 574 | 602296 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 89 | 575 | 607243 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 110 | 575 | 607243 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 89 | 575 | 607243 |
HP:0004322 | HP:0004322 | Short stature | 0 | AP4S1 CL E G H | 11154 | 614067 | Spastic paraplegia 52, autosomal recessive | 614067 | C3279743 | OMIM | 1 | | 110 | 575 | 607243 |
HP:0004322 | HP:0004322 | Short stature | 0 | AQP2 CL E G H | 359 | 125800 | Nephrogenic diabetes insipidus, autosomal | 125800 | C1563706 | OMIM | 1 | | 239 | 634 | 107777 |
HP:0004322 | HP:0004322 | Short stature | 0 | AQP2 CL E G H | 359 | 125800 | Nephrogenic diabetes insipidus, autosomal | 125800 | C1563706 | OMIM | 1 | | 247 | 634 | 107777 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 383 | 11110 | 603024 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 442 | 11110 | 603024 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 866 | 18040 | 614556 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 958 | 18040 | 614556 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID1B CL E G H | 57492 | 251056 | | | | ORPHA | 1 | | 866 | 18040 | 614556 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID1B CL E G H | 57492 | 251056 | | | | ORPHA | 1 | | 958 | 18040 | 614556 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 179 | 18037 | 609539 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 186 | 18037 | 609539 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 1 | | 113 | 13210 | 608845 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 1 | | 143 | 13210 | 608845 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 62 | 16876 | 606036 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARNT2 CL E G H | 9915 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 84 | 16876 | 606036 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARSE CL E G H | 415 | 302950 | Chondrodysplasia punctata 1, X-linked recessive | 302950 | C1844853 | OMIM | 1 | | | 719 | 300180 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARX CL E G H | 170302 | 2508 | | | | ORPHA | 1 | | 565 | 18060 | 300382 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARX CL E G H | 170302 | 2508 | | | | ORPHA | 1 | | 624 | 18060 | 300382 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0004322 | HP:0004322 | Short stature | 0 | ARX CL E G H | 170302 | 300004 | Proud Levine Carpenter syndrome | 300004 | C0796124 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 420 | 735 | 613468 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 593 | 735 | 613468 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 423 | 746 | 608310 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 469 | 746 | 608310 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASPM CL E G H | 259266 | 2512 | | | | ORPHA | 1 | | 920 | 19048 | 605481 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASPM CL E G H | 259266 | 2512 | | | | ORPHA | 1 | | 1103 | 19048 | 605481 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASPM CL E G H | 259266 | 608716 | Primary autosomal recessive microcephaly 5 | 608716 | C1837501 | OMIM | 1 | | 920 | 19048 | 605481 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASPM CL E G H | 259266 | 608716 | Primary autosomal recessive microcephaly 5 | 608716 | C1837501 | OMIM | 1 | | 1103 | 19048 | 605481 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 298 | 18318 | 612990 |
HP:0004322 | HP:0004322 | Short stature | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 388 | 18318 | 612990 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 10320 | 795 | 607585 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 11382 | 795 | 607585 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 10320 | 795 | 607585 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 11382 | 795 | 607585 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 417 | 18481 | 611716 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 458 | 18481 | 611716 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 417 | 18481 | 611716 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 458 | 18481 | 611716 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 417 | 18481 | 611716 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 458 | 18481 | 611716 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 79 | 851 | 607027 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 93 | 851 | 607027 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V1B2 CL E G H | 526 | 616455 | Zimmermann-Laband syndrome 2 | 616455 | C4225321 | OMIM | 1 | | 115 | 854 | 606939 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V1B2 CL E G H | 526 | 616455 | Zimmermann-Laband syndrome 2 | 616455 | C4225321 | OMIM | 1 | | 118 | 854 | 606939 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 160 | 857 | 108746 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 168 | 857 | 108746 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V1E1 CL E G H | 529 | 617402 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | 617402 | C4479387 | OMIM | 1 | | 160 | 857 | 108746 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP6V1E1 CL E G H | 529 | 617402 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | 617402 | C4479387 | OMIM | 1 | | 168 | 857 | 108746 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 897 | 869 | 300011 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1003 | 869 | 300011 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP8A2 CL E G H | 51761 | 1766 | | | | ORPHA | 1 | | 126 | 13533 | 605870 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATP8A2 CL E G H | 51761 | 1766 | | | | ORPHA | 1 | | 193 | 13533 | 605870 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 209 | 18802 | 608918 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 219 | 18802 | 608918 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 755 | 882 | 601215 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 1007 | 882 | 601215 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 239 | 33499 | 606605 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 333 | 33499 | 606605 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATRX CL E G H | 546 | 847 | | | | ORPHA | 1 | | 1103 | 886 | 300032 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATRX CL E G H | 546 | 847 | | | | ORPHA | 1 | | 1217 | 886 | 300032 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0004322 | HP:0004322 | Short stature | 0 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0004322 | HP:0004322 | Short stature | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 439 | 14262 | 607270 |
HP:0004322 | HP:0004322 | Short stature | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 454 | 14262 | 607270 |
HP:0004322 | HP:0004322 | Short stature | 0 | AVPR2 CL E G H | 554 | 304800 | Nephrogenic diabetes insipidus, X-linked | 304800 | C1563705 | OMIM | 1 | | 371 | 897 | 300538 |
HP:0004322 | HP:0004322 | Short stature | 0 | AVPR2 CL E G H | 554 | 304800 | Nephrogenic diabetes insipidus, X-linked | 304800 | C1563705 | OMIM | 1 | | 382 | 897 | 300538 |
HP:0004322 | HP:0004322 | Short stature | 0 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 281 | 17978 | 615291 |
HP:0004322 | HP:0004322 | Short stature | 0 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 337 | 17978 | 615291 |
HP:0004322 | HP:0004322 | Short stature | 0 | B3GALT6 CL E G H | 126792 | 93359 | | | | ORPHA | 1 | | 281 | 17978 | 615291 |
HP:0004322 | HP:0004322 | Short stature | 0 | B3GALT6 CL E G H | 126792 | 93359 | | | | ORPHA | 1 | | 337 | 17978 | 615291 |
HP:0004322 | HP:0004322 | Short stature | 0 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 89 | 923 | 606374 |
HP:0004322 | HP:0004322 | Short stature | 0 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 126 | 923 | 606374 |
HP:0004322 | HP:0004322 | Short stature | 0 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 175 | 930 | 604327 |
HP:0004322 | HP:0004322 | Short stature | 0 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 237 | 930 | 604327 |
HP:0004322 | HP:0004322 | Short stature | 0 | B4GALT7 CL E G H | 11285 | 130070 | Ehlers-Danlos syndrome progeroid type | 130070 | C1869122 | OMIM | 1 | | 175 | 930 | 604327 |
HP:0004322 | HP:0004322 | Short stature | 0 | B4GALT7 CL E G H | 11285 | 130070 | Ehlers-Danlos syndrome progeroid type | 130070 | C1869122 | OMIM | 1 | | 237 | 930 | 604327 |
HP:0004322 | HP:0004322 | Short stature | 0 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 44 | 17397 | 603811 |
HP:0004322 | HP:0004322 | Short stature | 0 | BANF1 CL E G H | 8815 | 614008 | Nestor-Guillermo progeria syndrome | 614008 | C3151446 | OMIM | 1 | | 45 | 17397 | 603811 |
HP:0004322 | HP:0004322 | Short stature | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 191 | 961 | 605681 |
HP:0004322 | HP:0004322 | Short stature | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 192 | 961 | 605681 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 1 | | 59 | 28093 | 613605 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 1 | | 71 | 28093 | 613605 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 1 | | 491 | 966 | 209901 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 1 | | 582 | 966 | 209901 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 1 | | 438 | 26291 | 610148 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 1 | | 528 | 26291 | 610148 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 1 | | 355 | 26648 | 610683 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 1 | | 439 | 26648 | 610683 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 1 | | 482 | 967 | 606151 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 1 | | 585 | 967 | 606151 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 1 | | 299 | 969 | 600374 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 1 | | 378 | 969 | 600374 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 1 | | 147 | 970 | 603650 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 1 | | 199 | 970 | 603650 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 1 | | 254 | 18758 | 607590 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 1 | | 326 | 18758 | 607590 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 1 | | 426 | 30000 | 607968 |
HP:0004322 | HP:0004322 | Short stature | 0 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 1 | | 512 | 30000 | 607968 |
HP:0004322 | HP:0004322 | Short stature | 0 | BCOR CL E G H | 54880 | 568 | Aggressive fibromatosis | | | ORPHA | 1 | | 502 | 20893 | 300485 |
HP:0004322 | HP:0004322 | Short stature | 0 | BCOR CL E G H | 54880 | 568 | Aggressive fibromatosis | | | ORPHA | 1 | | 536 | 20893 | 300485 |
HP:0004322 | HP:0004322 | Short stature | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0004322 | HP:0004322 | Short stature | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0004322 | HP:0004322 | Short stature | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 214 | 1014 | 151410 |
HP:0004322 | HP:0004322 | Short stature | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 217 | 1014 | 151410 |
HP:0004322 | HP:0004322 | Short stature | 0 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 56 | 1033 | 113505 |
HP:0004322 | HP:0004322 | Short stature | 0 | BLM CL E G H | 641 | 125 | | | | ORPHA | 1 | | 2048 | 1058 | 604610 |
HP:0004322 | HP:0004322 | Short stature | 0 | BLM CL E G H | 641 | 125 | | | | ORPHA | 1 | | 2425 | 1058 | 604610 |
HP:0004322 | HP:0004322 | Short stature | 0 | BMP2 CL E G H | 650 | 261295 | | | | ORPHA | 1 | | 92 | 1069 | 112261 |
HP:0004322 | HP:0004322 | Short stature | 0 | BMP2 CL E G H | 650 | 261295 | | | | ORPHA | 1 | | 111 | 1069 | 112261 |
HP:0004322 | HP:0004322 | Short stature | 0 | BMPR1B CL E G H | 658 | 2639 | | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0004322 | HP:0004322 | Short stature | 0 | BMPR1B CL E G H | 658 | 2639 | | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0004322 | HP:0004322 | Short stature | 0 | BMPR1B CL E G H | 658 | 93388 | | | | ORPHA | 1 | | 251 | 1077 | 603248 |
HP:0004322 | HP:0004322 | Short stature | 0 | BMPR1B CL E G H | 658 | 93388 | | | | ORPHA | 1 | | 273 | 1077 | 603248 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 1 | | 618 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 1 | | 680 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 618 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 680 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 618 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 680 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 613707 | LEOPARD syndrome 3 | 613707 | C3150971 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 613707 | LEOPARD syndrome 3 | 613707 | C3150971 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 12207 | 1100 | 113705 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 12586 | 1100 | 113705 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 13912 | 1101 | 600185 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 14742 | 1101 | 600185 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRCA2 CL E G H | 675 | 605724 | Fanconi anemia, complementation group D1 | 605724 | C1838457 | OMIM | 1 | | 13912 | 1101 | 600185 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRCA2 CL E G H | 675 | 605724 | Fanconi anemia, complementation group D1 | 605724 | C1838457 | OMIM | 1 | | 14742 | 1101 | 600185 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 142 | 11551 | 604902 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 158 | 11551 | 604902 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 3464 | 20473 | 605882 |
HP:0004322 | HP:0004322 | Short stature | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 3778 | 20473 | 605882 |
HP:0004322 | HP:0004322 | Short stature | 0 | BTK CL E G H | 695 | 47 | | | | ORPHA | 1 | | 500 | 1133 | 300300 |
HP:0004322 | HP:0004322 | Short stature | 0 | BTK CL E G H | 695 | 47 | | | | ORPHA | 1 | | 548 | 1133 | 300300 |
HP:0004322 | HP:0004322 | Short stature | 0 | BTK CL E G H | 695 | 307200 | X-linked agammaglobulinemia with growth hormone deficiency | 307200 | C0472813 | OMIM | 1 | | 500 | 1133 | 300300 |
HP:0004322 | HP:0004322 | Short stature | 0 | BTK CL E G H | 695 | 307200 | X-linked agammaglobulinemia with growth hormone deficiency | 307200 | C0472813 | OMIM | 1 | | 548 | 1133 | 300300 |
HP:0004322 | HP:0004322 | Short stature | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 86 | 1148 | 602452 |
HP:0004322 | HP:0004322 | Short stature | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 88 | 1148 | 602452 |
HP:0004322 | HP:0004322 | Short stature | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 511 | 1149 | 602860 |
HP:0004322 | HP:0004322 | Short stature | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 617 | 1149 | 602860 |
HP:0004322 | HP:0004322 | Short stature | 0 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 511 | 1149 | 602860 |
HP:0004322 | HP:0004322 | Short stature | 0 | BUB1B CL E G H | 701 | 257300 | Mosaic variegated aneuploidy syndrome 1 | 257300 | CN031748 | OMIM | 1 | | 617 | 1149 | 602860 |
HP:0004322 | HP:0004322 | Short stature | 0 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 51 | 1151 | 603719 |
HP:0004322 | HP:0004322 | Short stature | 0 | C1R CL E G H | 715 | 75392 | | | | ORPHA | 1 | | 96 | 1246 | 613785 |
HP:0004322 | HP:0004322 | Short stature | 0 | C1R CL E G H | 715 | 75392 | | | | ORPHA | 1 | | 104 | 1246 | 613785 |
HP:0004322 | HP:0004322 | Short stature | 0 | C1S CL E G H | 716 | 75392 | | | | ORPHA | 1 | | 121 | 1247 | 120580 |
HP:0004322 | HP:0004322 | Short stature | 0 | C1S CL E G H | 716 | 75392 | | | | ORPHA | 1 | | 201 | 1247 | 120580 |
HP:0004322 | HP:0004322 | Short stature | 0 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0004322 | HP:0004322 | Short stature | 0 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0004322 | HP:0004322 | Short stature | 0 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0004322 | HP:0004322 | Short stature | 0 | CA8 CL E G H | 767 | 1766 | | | | ORPHA | 1 | | 77 | 1382 | 114815 |
HP:0004322 | HP:0004322 | Short stature | 0 | CA8 CL E G H | 767 | 1766 | | | | ORPHA | 1 | | 83 | 1382 | 114815 |
HP:0004322 | HP:0004322 | Short stature | 0 | CASK CL E G H | 8573 | 300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300749 | C2677903 | OMIM | 1 | | 583 | 1497 | 300172 |
HP:0004322 | HP:0004322 | Short stature | 0 | CASK CL E G H | 8573 | 300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300749 | C2677903 | OMIM | 1 | | 633 | 1497 | 300172 |
HP:0004322 | HP:0004322 | Short stature | 0 | CASP8 CL E G H | 841 | 607271 | Caspase-8 deficiency | 607271 | C1846545 | OMIM | 1 | | 194 | 1509 | 601763 |
HP:0004322 | HP:0004322 | Short stature | 0 | CASP8 CL E G H | 841 | 607271 | Caspase-8 deficiency | 607271 | C1846545 | OMIM | 1 | | 230 | 1509 | 601763 |
HP:0004322 | HP:0004322 | Short stature | 0 | CASR CL E G H | 846 | 417 | Aloi Tomasini Isaia syndrome | | | ORPHA | 1 | | 1318 | 1514 | 601199 |
HP:0004322 | HP:0004322 | Short stature | 0 | CASR CL E G H | 846 | 417 | Aloi Tomasini Isaia syndrome | | | ORPHA | 1 | | 1569 | 1514 | 601199 |
HP:0004322 | HP:0004322 | Short stature | 0 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 81 | 1527 | 601047 |
HP:0004322 | HP:0004322 | Short stature | 0 | CAV1 CL E G H | 857 | 612526 | Lipodystrophy, congenital generalized, type 3 | 612526 | C2675861 | OMIM | 1 | | 85 | 1527 | 601047 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 242 | 28909 | 300859 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 250 | 28909 | 300859 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCDC8 CL E G H | 83987 | 2616 | | | | ORPHA | 1 | | 47 | 25367 | 614145 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCDC8 CL E G H | 83987 | 2616 | | | | ORPHA | 1 | | 95 | 25367 | 614145 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCDC8 CL E G H | 83987 | 614205 | Three M syndrome 3 | 614205 | C3280146 | OMIM | 1 | | 47 | 25367 | 614145 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCDC8 CL E G H | 83987 | 614205 | Three M syndrome 3 | 614205 | C3280146 | OMIM | 1 | | 95 | 25367 | 614145 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCN6 CL E G H | 8838 | 1159 | | | | ORPHA | 1 | | 86 | 12771 | 603400 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCN6 CL E G H | 8838 | 1159 | | | | ORPHA | 1 | | 87 | 12771 | 603400 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCNQ CL E G H | 92002 | 140952 | | | | ORPHA | 1 | | 239 | 28434 | 300708 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCNQ CL E G H | 92002 | 140952 | | | | ORPHA | 1 | | 244 | 28434 | 300708 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCNQ CL E G H | 92002 | 300707 | STAR syndrome | 300707 | C2678045 | OMIM | 1 | | 239 | 28434 | 300708 |
HP:0004322 | HP:0004322 | Short stature | 0 | CCNQ CL E G H | 92002 | 300707 | STAR syndrome | 300707 | C2678045 | OMIM | 1 | | 244 | 28434 | 300708 |
HP:0004322 | HP:0004322 | Short stature | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 56 | 16892 | 606037 |
HP:0004322 | HP:0004322 | Short stature | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 62 | 16892 | 606037 |
HP:0004322 | HP:0004322 | Short stature | 0 | CD96 CL E G H | 10225 | 1308 | Chorioretinopathy dominant form microcephaly | | | ORPHA | 1 | | 56 | 16892 | 606037 |
HP:0004322 | HP:0004322 | Short stature | 0 | CD96 CL E G H | 10225 | 1308 | Chorioretinopathy dominant form microcephaly | | | ORPHA | 1 | | 62 | 16892 | 606037 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDC45 CL E G H | 8318 | 617063 | Meier-gorlin syndrome 7 | 617063 | C4310738 | OMIM | 1 | | 500 | 1739 | 603465 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDC45 CL E G H | 8318 | 617063 | Meier-gorlin syndrome 7 | 617063 | C4310738 | OMIM | 1 | | 542 | 1739 | 603465 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDCA7 CL E G H | 83879 | 2268 | | | | ORPHA | 1 | | 56 | 14628 | 609937 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDCA7 CL E G H | 83879 | 2268 | | | | ORPHA | 1 | | 103 | 14628 | 609937 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDH3 CL E G H | 1001 | 1573 | Craniofacial dysostosis arthrogryposis progeroid appearence | | | ORPHA | 1 | | 410 | 1762 | 114021 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDH3 CL E G H | 1001 | 1573 | Craniofacial dysostosis arthrogryposis progeroid appearence | | | ORPHA | 1 | | 523 | 1762 | 114021 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDK10 CL E G H | 8558 | 617694 | AL KAISSI SYNDROME | 617694 | C4540156 | OMIM | 1 | | 90 | 1770 | 603464 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDK10 CL E G H | 8558 | 617694 | AL KAISSI SYNDROME | 617694 | C4540156 | OMIM | 1 | | 94 | 1770 | 603464 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDK5RAP2 CL E G H | 55755 | 2512 | | | | ORPHA | 1 | | 454 | 18672 | 608201 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDK5RAP2 CL E G H | 55755 | 2512 | | | | ORPHA | 1 | | 463 | 18672 | 608201 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDK6 CL E G H | 1021 | 2512 | | | | ORPHA | 1 | | 45 | 1777 | 603368 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDKN1C CL E G H | 1028 | 436144 | | | | ORPHA | 1 | | 673 | 1786 | 600856 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDKN1C CL E G H | 1028 | 436144 | | | | ORPHA | 1 | | 806 | 1786 | 600856 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDON CL E G H | 50937 | 95496 | | | | ORPHA | 1 | | 489 | 17104 | 608707 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDON CL E G H | 50937 | 95496 | | | | ORPHA | 1 | | 518 | 17104 | 608707 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDON CL E G H | 50937 | 280200 | | | | ORPHA | 1 | | 489 | 17104 | 608707 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDON CL E G H | 50937 | 280200 | | | | ORPHA | 1 | | 518 | 17104 | 608707 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDSN CL E G H | 1041 | 270300 | Peeling skin syndrome | 270300 | C1849193 | OMIM | 1 | | 72 | 1802 | 602593 |
HP:0004322 | HP:0004322 | Short stature | 0 | CDSN CL E G H | 1041 | 270300 | Peeling skin syndrome | 270300 | C1849193 | OMIM | 1 | | 76 | 1802 | 602593 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 252 | 1856 | 117143 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 262 | 1856 | 117143 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPE CL E G H | 1062 | 616051 | Primary autosomal recessive microcephaly 13 | 616051 | C4015080 | OMIM | 1 | | 252 | 1856 | 117143 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPE CL E G H | 1062 | 616051 | Primary autosomal recessive microcephaly 13 | 616051 | C4015080 | OMIM | 1 | | 262 | 1856 | 117143 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPJ CL E G H | 55835 | 2512 | | | | ORPHA | 1 | | 347 | 17272 | 609279 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPJ CL E G H | 55835 | 2512 | | | | ORPHA | 1 | | 399 | 17272 | 609279 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 347 | 17272 | 609279 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 399 | 17272 | 609279 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPJ CL E G H | 55835 | 613676 | Seckel syndrome 4 | 613676 | C3888212 | OMIM | 1 | | 347 | 17272 | 609279 |
HP:0004322 | HP:0004322 | Short stature | 0 | CENPJ CL E G H | 55835 | 613676 | Seckel syndrome 4 | 613676 | C3888212 | OMIM | 1 | | 399 | 17272 | 609279 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP135 CL E G H | 9662 | 2512 | | | | ORPHA | 1 | | 176 | 29086 | 611423 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP135 CL E G H | 9662 | 2512 | | | | ORPHA | 1 | | 245 | 29086 | 611423 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP152 CL E G H | 22995 | 2512 | | | | ORPHA | 1 | | 334 | 29298 | 613529 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP152 CL E G H | 22995 | 2512 | | | | ORPHA | 1 | | 404 | 29298 | 613529 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 334 | 29298 | 613529 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 404 | 29298 | 613529 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 334 | 29298 | 613529 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 404 | 29298 | 613529 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP164 CL E G H | 22897 | 3156 | | | | ORPHA | 1 | | 498 | 29182 | 614848 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP164 CL E G H | 22897 | 3156 | | | | ORPHA | 1 | | 692 | 29182 | 614848 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 1 | | 1535 | 29021 | 610142 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 1 | | 1902 | 29021 | 610142 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP290 CL E G H | 80184 | 3156 | | | | ORPHA | 1 | | 1535 | 29021 | 610142 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP290 CL E G H | 80184 | 3156 | | | | ORPHA | 1 | | 1902 | 29021 | 610142 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 212 | 30794 | 607951 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 275 | 30794 | 607951 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP57 CL E G H | 9702 | 614114 | Mosaic variegated aneuploidy syndrome 2 | 614114 | C3279843 | OMIM | 1 | | 212 | 30794 | 607951 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP57 CL E G H | 9702 | 614114 | Mosaic variegated aneuploidy syndrome 2 | 614114 | C3279843 | OMIM | 1 | | 275 | 30794 | 607951 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP63 CL E G H | 80254 | 2512 | | | | ORPHA | 1 | | 167 | 25815 | 614724 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP63 CL E G H | 80254 | 2512 | | | | ORPHA | 1 | | 200 | 25815 | 614724 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 167 | 25815 | 614724 |
HP:0004322 | HP:0004322 | Short stature | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 200 | 25815 | 614724 |
HP:0004322 | HP:0004322 | Short stature | 0 | CFAP410 CL E G H | 755 | 602271 | Spondylometaphyseal dysplasia axial | 602271 | C1865695 | OMIM | 1 | | 270 | 1260 | 603191 |
HP:0004322 | HP:0004322 | Short stature | 0 | CFAP410 CL E G H | 755 | 602271 | Spondylometaphyseal dysplasia axial | 602271 | C1865695 | OMIM | 1 | | 335 | 1260 | 603191 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHCHD10 CL E G H | 400916 | 457050 | | | | ORPHA | 1 | | 205 | 15559 | 615903 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHCHD10 CL E G H | 400916 | 457050 | | | | ORPHA | 1 | | 230 | 15559 | 615903 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 205 | 15559 | 615903 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 230 | 15559 | 615903 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHD4 CL E G H | 1108 | 617159 | Sifrim-Hitz-Weiss syndrome | 617159 | C4310688 | OMIM | 1 | | 190 | 1919 | 603277 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHD4 CL E G H | 1108 | 617159 | Sifrim-Hitz-Weiss syndrome | 617159 | C4310688 | OMIM | 1 | | 217 | 1919 | 603277 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 1752 | 20626 | 608892 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 1980 | 20626 | 608892 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 206 | 1967 | 100730 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 212 | 1967 | 100730 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 206 | 1967 | 100730 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 212 | 1967 | 100730 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 285 | 1971 | 603799 |
HP:0004322 | HP:0004322 | Short stature | 0 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 333 | 1971 | 603799 |
HP:0004322 | HP:0004322 | Short stature | 0 | CIT CL E G H | 11113 | 2512 | | | | ORPHA | 1 | | 319 | 1985 | 605629 |
HP:0004322 | HP:0004322 | Short stature | 0 | CIT CL E G H | 11113 | 2512 | | | | ORPHA | 1 | | 329 | 1985 | 605629 |
HP:0004322 | HP:0004322 | Short stature | 0 | CIT CL E G H | 11113 | 617090 | Microcephaly 17, primary, autosomal recessive | 617090 | C4310723 | OMIM | 1 | | 319 | 1985 | 605629 |
HP:0004322 | HP:0004322 | Short stature | 0 | CIT CL E G H | 11113 | 617090 | Microcephaly 17, primary, autosomal recessive | 617090 | C4310723 | OMIM | 1 | | 329 | 1985 | 605629 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLCN5 CL E G H | 1184 | 300009 | Dent disease 1 | 300009 | C1848336 | OMIM | 1 | | 399 | 2023 | 300008 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLCN5 CL E G H | 1184 | 300009 | Dent disease 1 | 300009 | C1848336 | OMIM | 1 | | 422 | 2023 | 300008 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLCN5 CL E G H | 1184 | 300554 | Hypophosphatemic rickets, X-linked recessive | 300554 | C1845168 | OMIM | 1 | | 399 | 2023 | 300008 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLCN5 CL E G H | 1184 | 300554 | Hypophosphatemic rickets, X-linked recessive | 300554 | C1845168 | OMIM | 1 | | 422 | 2023 | 300008 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLCN5 CL E G H | 1184 | 308990 | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 308990 | C1839874 | OMIM | 1 | | 399 | 2023 | 300008 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLCN5 CL E G H | 1184 | 308990 | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 308990 | C1839874 | OMIM | 1 | | 422 | 2023 | 300008 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 1 | | 388 | 2025 | 602727 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 1 | | 549 | 2025 | 602727 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 176 | 2586 | 603432 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 177 | 2586 | 603432 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLMP CL E G H | 79827 | 2301 | | | | ORPHA | 1 | | 68 | 24039 | 611693 |
HP:0004322 | HP:0004322 | Short stature | 0 | CLMP CL E G H | 79827 | 2301 | | | | ORPHA | 1 | | 69 | 24039 | 611693 |
HP:0004322 | HP:0004322 | Short stature | 0 | COG4 CL E G H | 25839 | 85172 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0004322 | HP:0004322 | Short stature | 0 | COG4 CL E G H | 25839 | 85172 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A1 CL E G H | 1301 | 2021 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A1 CL E G H | 1301 | 2021 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1028 | 2186 | 120280 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1339 | 2186 | 120280 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A2 CL E G H | 1302 | 2021 | | | | ORPHA | 1 | | 705 | 2187 | 120290 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A2 CL E G H | 1302 | 2021 | | | | ORPHA | 1 | | 974 | 2187 | 120290 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A2 CL E G H | 1302 | 215150 | Otospondylomegaepiphyseal dysplasia | 215150 | C0432210 | OMIM | 1 | | 705 | 2187 | 120290 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL11A2 CL E G H | 1302 | 215150 | Otospondylomegaepiphyseal dysplasia | 215150 | C0432210 | OMIM | 1 | | 974 | 2187 | 120290 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL1A1 CL E G H | 1277 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 1397 | 2197 | 120150 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL1A1 CL E G H | 1277 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 1655 | 2197 | 120150 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL1A2 CL E G H | 1278 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 1042 | 2198 | 120160 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL1A2 CL E G H | 1278 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 1203 | 2198 | 120160 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL27A1 CL E G H | 85301 | 615155 | Steel syndrome | 615155 | C3554594 | OMIM | 1 | | 711 | 22986 | 608461 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL27A1 CL E G H | 85301 | 615155 | Steel syndrome | 615155 | C3554594 | OMIM | 1 | | 813 | 22986 | 608461 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 1856 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 1856 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 85198 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 93316 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 93316 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 94068 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 94068 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 150600 | Coxa plana | 150600 | C0023234 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 150600 | Coxa plana | 150600 | C0023234 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | 132450 | C1851536 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | 132450 | C1851536 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 2380 | Freiberg's disease | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 2380 | Freiberg's disease | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 604864 | Osteoarthritis with mild chondrodysplasia | 604864 | C1858079 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 604864 | Osteoarthritis with mild chondrodysplasia | 604864 | C1858079 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 271700 | Spondyloperipheral dysplasia | 271700 | C0796173 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL2A1 CL E G H | 1280 | 271700 | Spondyloperipheral dysplasia | 271700 | C0796173 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL3A1 CL E G H | 1281 | 130050 | Ehlers-Danlos syndrome, type 4 | 130050 | C0268338 | OMIM | 1 | | 1935 | 2201 | 120180 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL3A1 CL E G H | 1281 | 130050 | Ehlers-Danlos syndrome, type 4 | 130050 | C0268338 | OMIM | 1 | | 2083 | 2201 | 120180 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL3A1 CL E G H | 1281 | 2500 | Glucocorticoid sensitive hypertension | | | ORPHA | 1 | | 1935 | 2201 | 120180 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL3A1 CL E G H | 1281 | 2500 | Glucocorticoid sensitive hypertension | | | ORPHA | 1 | | 2083 | 2201 | 120180 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 1935 | 2201 | 120180 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL3A1 CL E G H | 1281 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2083 | 2201 | 120180 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL5A1 CL E G H | 1289 | 130000 | Ehlers-Danlos syndrome, classic type | 130000 | C0268335 | OMIM | 1 | | 2077 | 2209 | 120215 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL5A1 CL E G H | 1289 | 130000 | Ehlers-Danlos syndrome, classic type | 130000 | C0268335 | OMIM | 1 | | 2246 | 2209 | 120215 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2077 | 2209 | 120215 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL5A1 CL E G H | 1289 | 286 | Imaizumi Kuroki syndrome | | | ORPHA | 1 | | 2246 | 2209 | 120215 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1370 | 2212 | 120240 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1512 | 2212 | 120240 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A1 CL E G H | 1297 | 166002 | | | | ORPHA | 1 | | 594 | 2217 | 120210 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A1 CL E G H | 1297 | 166002 | | | | ORPHA | 1 | | 744 | 2217 | 120210 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 594 | 2217 | 120210 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 744 | 2217 | 120210 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A1 CL E G H | 1297 | 614134 | Stickler syndrome, type 4 | 614134 | C3279941 | OMIM | 1 | | 594 | 2217 | 120210 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A1 CL E G H | 1297 | 614134 | Stickler syndrome, type 4 | 614134 | C3279941 | OMIM | 1 | | 744 | 2217 | 120210 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A2 CL E G H | 1298 | 166002 | | | | ORPHA | 1 | | 336 | 2218 | 120260 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A2 CL E G H | 1298 | 166002 | | | | ORPHA | 1 | | 479 | 2218 | 120260 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 336 | 2218 | 120260 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 479 | 2218 | 120260 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 336 | 2218 | 120260 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 479 | 2218 | 120260 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A3 CL E G H | 1299 | 166002 | | | | ORPHA | 1 | | 464 | 2219 | 120270 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A3 CL E G H | 1299 | 166002 | | | | ORPHA | 1 | | 703 | 2219 | 120270 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 464 | 2219 | 120270 |
HP:0004322 | HP:0004322 | Short stature | 0 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 703 | 2219 | 120270 |
HP:0004322 | HP:0004322 | Short stature | 0 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 54 | 2220 | 607620 |
HP:0004322 | HP:0004322 | Short stature | 0 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 55 | 2220 | 607620 |
HP:0004322 | HP:0004322 | Short stature | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 579 | 2228 | 116790 |
HP:0004322 | HP:0004322 | Short stature | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 587 | 2228 | 116790 |
HP:0004322 | HP:0004322 | Short stature | 0 | COPB2 CL E G H | 9276 | 2512 | | | | ORPHA | 1 | | 51 | 2232 | 606990 |
HP:0004322 | HP:0004322 | Short stature | 0 | COPB2 CL E G H | 9276 | 2512 | | | | ORPHA | 1 | | 63 | 2232 | 606990 |
HP:0004322 | HP:0004322 | Short stature | 0 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 171 | 2291 | 300885 |
HP:0004322 | HP:0004322 | Short stature | 0 | COX7B CL E G H | 1349 | 309801 | Linear skin defects with multiple congenital anomalies 1 | 309801 | C0796070 | OMIM | 1 | | 175 | 2291 | 300885 |
HP:0004322 | HP:0004322 | Short stature | 0 | COX7B CL E G H | 1349 | 300887 | Linear skin defects with multiple congenital anomalies 2 | 300887 | C3550921 | OMIM | 1 | | 171 | 2291 | 300885 |
HP:0004322 | HP:0004322 | Short stature | 0 | COX7B CL E G H | 1349 | 300887 | Linear skin defects with multiple congenital anomalies 2 | 300887 | C3550921 | OMIM | 1 | | 175 | 2291 | 300885 |
HP:0004322 | HP:0004322 | Short stature | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 824 | 25801 | 614571 |
HP:0004322 | HP:0004322 | Short stature | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 1239 | 25801 | 614571 |
HP:0004322 | HP:0004322 | Short stature | 0 | CPLANE1 CL E G H | 65250 | 277170 | Orofaciodigital syndrome 6 | 277170 | C2745997 | OMIM | 1 | | 824 | 25801 | 614571 |
HP:0004322 | HP:0004322 | Short stature | 0 | CPLANE1 CL E G H | 65250 | 277170 | Orofaciodigital syndrome 6 | 277170 | C2745997 | OMIM | 1 | | 1239 | 25801 | 614571 |
HP:0004322 | HP:0004322 | Short stature | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0004322 | HP:0004322 | Short stature | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0004322 | HP:0004322 | Short stature | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0004322 | HP:0004322 | Short stature | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0004322 | HP:0004322 | Short stature | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 398 | 2363 | 602007 |
HP:0004322 | HP:0004322 | Short stature | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 406 | 2363 | 602007 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 729 | 26169 | 613129 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 918 | 26169 | 613129 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 1 | | 729 | 26169 | 613129 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 1 | | 918 | 26169 | 613129 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 190 | 13723 | 604167 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 201 | 13723 | 604167 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 323 | 2498 | 604927 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTDP1 CL E G H | 9150 | 48431 | | | | ORPHA | 1 | | 348 | 2498 | 604927 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 323 | 2498 | 604927 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 348 | 2498 | 604927 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTNND2 CL E G H | 1501 | 281 | Ramer Ladda syndrome | | | ORPHA | 1 | | 304 | 2516 | 604275 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTNND2 CL E G H | 1501 | 281 | Ramer Ladda syndrome | | | ORPHA | 1 | | 308 | 2516 | 604275 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 550 | 2518 | 606272 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTNS CL E G H | 1497 | 219800 | Nephropathic cystinosis | 219800 | C0010690 | OMIM | 1 | | 591 | 2518 | 606272 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTSK CL E G H | 1513 | 763 | | | | ORPHA | 1 | | 163 | 2536 | 601105 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTSK CL E G H | 1513 | 763 | | | | ORPHA | 1 | | 186 | 2536 | 601105 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTSK CL E G H | 1513 | 265800 | Pyknodysostosis | 265800 | C0238402 | OMIM | 1 | | 163 | 2536 | 601105 |
HP:0004322 | HP:0004322 | Short stature | 0 | CTSK CL E G H | 1513 | 265800 | Pyknodysostosis | 265800 | C0238402 | OMIM | 1 | | 186 | 2536 | 601105 |
HP:0004322 | HP:0004322 | Short stature | 0 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 1 | | 310 | 2555 | 300304 |
HP:0004322 | HP:0004322 | Short stature | 0 | CUL4B CL E G H | 8450 | 85293 | | | | ORPHA | 1 | | 322 | 2555 | 300304 |
HP:0004322 | HP:0004322 | Short stature | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 310 | 2555 | 300304 |
HP:0004322 | HP:0004322 | Short stature | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 322 | 2555 | 300304 |
HP:0004322 | HP:0004322 | Short stature | 0 | CUL7 CL E G H | 9820 | 2616 | | | | ORPHA | 1 | | 324 | 21024 | 609577 |
HP:0004322 | HP:0004322 | Short stature | 0 | CUL7 CL E G H | 9820 | 2616 | | | | ORPHA | 1 | | 423 | 21024 | 609577 |
HP:0004322 | HP:0004322 | Short stature | 0 | CUL7 CL E G H | 9820 | 273750 | Three M syndrome 1 | 273750 | C1848862 | OMIM | 1 | | 324 | 21024 | 609577 |
HP:0004322 | HP:0004322 | Short stature | 0 | CUL7 CL E G H | 9820 | 273750 | Three M syndrome 1 | 273750 | C1848862 | OMIM | 1 | | 423 | 21024 | 609577 |
HP:0004322 | HP:0004322 | Short stature | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 135 | 10664 | 617170 |
HP:0004322 | HP:0004322 | Short stature | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 196 | 10664 | 617170 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 145 | 2570 | 613218 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYB5A CL E G H | 1528 | 90796 | | | | ORPHA | 1 | | 148 | 2570 | 613218 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 458 | 2591 | 610613 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP11B1 CL E G H | 1584 | 90795 | | | | ORPHA | 1 | | 482 | 2591 | 610613 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP11B1 CL E G H | 1584 | 202010 | Deficiency of steroid 11-beta-monooxygenase | 202010 | C0268292 | OMIM | 1 | | 458 | 2591 | 610613 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP11B1 CL E G H | 1584 | 202010 | Deficiency of steroid 11-beta-monooxygenase | 202010 | C0268292 | OMIM | 1 | | 482 | 2591 | 610613 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 232 | 2593 | 609300 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP17A1 CL E G H | 1586 | 90793 | | | | ORPHA | 1 | | 257 | 2593 | 609300 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 232 | 2593 | 609300 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP17A1 CL E G H | 1586 | 90796 | | | | ORPHA | 1 | | 257 | 2593 | 609300 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP19A1 CL E G H | 1588 | 139300 | Familial gynecomastia, due to increased aromatase activity | 139300 | C1970109 | OMIM | 1 | | 272 | 2594 | 107910 |
HP:0004322 | HP:0004322 | Short stature | 0 | CYP19A1 CL E G H | 1588 | 139300 | Familial gynecomastia, due to increased aromatase activity | 139300 | C1970109 | OMIM | 1 | | 288 | 2594 | 107910 |
HP:0004322 | HP:0004322 | Short stature | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 192 | 29106 | 615003 |
HP:0004322 | HP:0004322 | Short stature | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 230 | 29106 | 615003 |
HP:0004322 | HP:0004322 | Short stature | 0 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 154 | 2728 | 602202 |
HP:0004322 | HP:0004322 | Short stature | 0 | DDOST CL E G H | 1650 | 300536 | | | | ORPHA | 1 | | 179 | 2728 | 602202 |
HP:0004322 | HP:0004322 | Short stature | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 179 | 14677 | 602635 |
HP:0004322 | HP:0004322 | Short stature | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 311 | 14677 | 602635 |
HP:0004322 | HP:0004322 | Short stature | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 511 | 2860 | 602858 |
HP:0004322 | HP:0004322 | Short stature | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 546 | 2860 | 602858 |
HP:0004322 | HP:0004322 | Short stature | 0 | DIAPH1 CL E G H | 1729 | 616632 | Seizures, cortical blindness, and microcephaly syndrome | 616632 | C4225261 | OMIM | 1 | | 554 | 2876 | 602121 |
HP:0004322 | HP:0004322 | Short stature | 0 | DIAPH1 CL E G H | 1729 | 616632 | Seizures, cortical blindness, and microcephaly syndrome | 616632 | C4225261 | OMIM | 1 | | 758 | 2876 | 602121 |
HP:0004322 | HP:0004322 | Short stature | 0 | DISP1 CL E G H | 84976 | 280200 | | | | ORPHA | 1 | | 145 | 19711 | 607502 |
HP:0004322 | HP:0004322 | Short stature | 0 | DISP1 CL E G H | 84976 | 280200 | | | | ORPHA | 1 | | 178 | 19711 | 607502 |
HP:0004322 | HP:0004322 | Short stature | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 396 | 2890 | 300126 |
HP:0004322 | HP:0004322 | Short stature | 0 | DKC1 CL E G H | 1736 | 3322 | | | | ORPHA | 1 | | 426 | 2890 | 300126 |
HP:0004322 | HP:0004322 | Short stature | 0 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 1 | | 396 | 2890 | 300126 |
HP:0004322 | HP:0004322 | Short stature | 0 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 1 | | 426 | 2890 | 300126 |
HP:0004322 | HP:0004322 | Short stature | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0004322 | HP:0004322 | Short stature | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0004322 | HP:0004322 | Short stature | 0 | DLL1 CL E G H | 28514 | 280200 | | | | ORPHA | 1 | | 177 | 2908 | 606582 |
HP:0004322 | HP:0004322 | Short stature | 0 | DLL1 CL E G H | 28514 | 280200 | | | | ORPHA | 1 | | 206 | 2908 | 606582 |
HP:0004322 | HP:0004322 | Short stature | 0 | DLL3 CL E G H | 10683 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 185 | 2909 | 602768 |
HP:0004322 | HP:0004322 | Short stature | 0 | DLL3 CL E G H | 10683 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 228 | 2909 | 602768 |
HP:0004322 | HP:0004322 | Short stature | 0 | DMP1 CL E G H | 1758 | 289176 | | | | ORPHA | 1 | | 125 | 2932 | 600980 |
HP:0004322 | HP:0004322 | Short stature | 0 | DMP1 CL E G H | 1758 | 289176 | | | | ORPHA | 1 | | 139 | 2932 | 600980 |
HP:0004322 | HP:0004322 | Short stature | 0 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 161 | 2938 | 612186 |
HP:0004322 | HP:0004322 | Short stature | 0 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 306 | 2938 | 612186 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNA2 CL E G H | 1763 | 615807 | Seckel syndrome 8 | 615807 | C3891452 | OMIM | 1 | | 223 | 2939 | 601810 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNA2 CL E G H | 1763 | 615807 | Seckel syndrome 8 | 615807 | C3891452 | OMIM | 1 | | 290 | 2939 | 601810 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 91 | 27030 | 617048 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 187 | 27030 | 617048 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC21 CL E G H | 134218 | 617052 | Bone marrow failure syndrome 3 | 617052 | C4310744 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 91 | 27030 | 617048 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 187 | 27030 | 617048 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 86 | 9439 | 601184 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 90 | 9439 | 601184 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 86 | 9439 | 601184 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 90 | 9439 | 601184 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNMT3B CL E G H | 1789 | 2268 | | | | ORPHA | 1 | | 339 | 2979 | 602900 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNMT3B CL E G H | 1789 | 2268 | | | | ORPHA | 1 | | 402 | 2979 | 602900 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNMT3B CL E G H | 1789 | 242860 | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | 242860 | C0398788 | OMIM | 1 | | 339 | 2979 | 602900 |
HP:0004322 | HP:0004322 | Short stature | 0 | DNMT3B CL E G H | 1789 | 242860 | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | 242860 | C0398788 | OMIM | 1 | | 402 | 2979 | 602900 |
HP:0004322 | HP:0004322 | Short stature | 0 | DPF2 CL E G H | 5977 | 1465 | | | | ORPHA | 1 | | 37 | 9964 | 601671 |
HP:0004322 | HP:0004322 | Short stature | 0 | DPF2 CL E G H | 5977 | 1465 | | | | ORPHA | 1 | | 45 | 9964 | 601671 |
HP:0004322 | HP:0004322 | Short stature | 0 | DPH1 CL E G H | 1801 | 616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | 616901 | C4310801 | OMIM | 1 | | 110 | 3003 | 603527 |
HP:0004322 | HP:0004322 | Short stature | 0 | DPH1 CL E G H | 1801 | 616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | 616901 | C4310801 | OMIM | 1 | | 111 | 3003 | 603527 |
HP:0004322 | HP:0004322 | Short stature | 0 | DPP6 CL E G H | 1804 | 2514 | | | | ORPHA | 1 | | 222 | 3010 | 126141 |
HP:0004322 | HP:0004322 | Short stature | 0 | DPP6 CL E G H | 1804 | 2514 | | | | ORPHA | 1 | | 225 | 3010 | 126141 |
HP:0004322 | HP:0004322 | Short stature | 0 | DPP6 CL E G H | 1804 | 616311 | Mental retardation, autosomal dominant 33 | 616311 | C4225375 | OMIM | 1 | | 222 | 3010 | 126141 |
HP:0004322 | HP:0004322 | Short stature | 0 | DPP6 CL E G H | 1804 | 616311 | Mental retardation, autosomal dominant 33 | 616311 | C4225375 | OMIM | 1 | | 225 | 3010 | 126141 |
HP:0004322 | HP:0004322 | Short stature | 0 | DUOX2 CL E G H | 50506 | 95716 | | | | ORPHA | 1 | | 434 | 13273 | 606759 |
HP:0004322 | HP:0004322 | Short stature | 0 | DUOX2 CL E G H | 50506 | 95716 | | | | ORPHA | 1 | | 668 | 13273 | 606759 |
HP:0004322 | HP:0004322 | Short stature | 0 | DUOXA2 CL E G H | 405753 | 95716 | | | | ORPHA | 1 | | 69 | 32698 | 612772 |
HP:0004322 | HP:0004322 | Short stature | 0 | DUOXA2 CL E G H | 405753 | 95716 | | | | ORPHA | 1 | | 70 | 32698 | 612772 |
HP:0004322 | HP:0004322 | Short stature | 0 | DVL3 CL E G H | 1857 | 616894 | Robinow syndrome, autosomal dominant 3 | 616894 | C4225164 | OMIM | 1 | | 112 | 3087 | 601368 |
HP:0004322 | HP:0004322 | Short stature | 0 | DVL3 CL E G H | 1857 | 616894 | Robinow syndrome, autosomal dominant 3 | 616894 | C4225164 | OMIM | 1 | | 141 | 3087 | 601368 |
HP:0004322 | HP:0004322 | Short stature | 0 | DYNC2H1 CL E G H | 79659 | 613091 | Short-rib thoracic dysplasia 3 with or without polydactyly | 613091 | C2751311 | OMIM | 1 | | 1203 | 2962 | 603297 |
HP:0004322 | HP:0004322 | Short stature | 0 | DYNC2H1 CL E G H | 79659 | 613091 | Short-rib thoracic dysplasia 3 with or without polydactyly | 613091 | C2751311 | OMIM | 1 | | 1376 | 2962 | 603297 |
HP:0004322 | HP:0004322 | Short stature | 0 | DYNC2LI1 CL E G H | 51626 | 617088 | Short-rib thoracic dysplasia 15 with polydactyly | 617088 | C4310724 | OMIM | 1 | | 262 | 24595 | 617083 |
HP:0004322 | HP:0004322 | Short stature | 0 | DYNC2LI1 CL E G H | 51626 | 617088 | Short-rib thoracic dysplasia 15 with polydactyly | 617088 | C4310724 | OMIM | 1 | | 300 | 24595 | 617083 |
HP:0004322 | HP:0004322 | Short stature | 0 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 265 | 3133 | 300205 |
HP:0004322 | HP:0004322 | Short stature | 0 | EBP CL E G H | 10682 | 300960 | MEND syndrome | 300960 | C4085243 | OMIM | 1 | | 286 | 3133 | 300205 |
HP:0004322 | HP:0004322 | Short stature | 0 | ECEL1 CL E G H | 9427 | 615065 | Distal arthrogryposis type 5D | 615065 | C3554415 | OMIM | 1 | | 150 | 3147 | 605896 |
HP:0004322 | HP:0004322 | Short stature | 0 | ECEL1 CL E G H | 9427 | 615065 | Distal arthrogryposis type 5D | 615065 | C3554415 | OMIM | 1 | | 153 | 3147 | 605896 |
HP:0004322 | HP:0004322 | Short stature | 0 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 88 | 25789 | 617538 |
HP:0004322 | HP:0004322 | Short stature | 0 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 196 | 25789 | 617538 |
HP:0004322 | HP:0004322 | Short stature | 0 | EFNB1 CL E G H | 1947 | 304110 | Craniofrontonasal dysplasia | 304110 | C0220767 | OMIM | 1 | | 201 | 3226 | 300035 |
HP:0004322 | HP:0004322 | Short stature | 0 | EFNB1 CL E G H | 1947 | 304110 | Craniofrontonasal dysplasia | 304110 | C0220767 | OMIM | 1 | | 210 | 3226 | 300035 |
HP:0004322 | HP:0004322 | Short stature | 0 | EFTUD2 CL E G H | 9343 | 79113 | | | | ORPHA | 1 | | 282 | 30858 | 603892 |
HP:0004322 | HP:0004322 | Short stature | 0 | EFTUD2 CL E G H | 9343 | 79113 | | | | ORPHA | 1 | | 310 | 30858 | 603892 |
HP:0004322 | HP:0004322 | Short stature | 0 | EFTUD2 CL E G H | 9343 | 610536 | Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | 610536 | C1864652 | OMIM | 1 | | 282 | 30858 | 603892 |
HP:0004322 | HP:0004322 | Short stature | 0 | EFTUD2 CL E G H | 9343 | 610536 | Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | 610536 | C1864652 | OMIM | 1 | | 310 | 30858 | 603892 |
HP:0004322 | HP:0004322 | Short stature | 0 | EHHADH CL E G H | 1962 | 615605 | Fanconi renotubular syndrome 3 | 615605 | C3810100 | OMIM | 1 | | 176 | 3247 | 607037 |
HP:0004322 | HP:0004322 | Short stature | 0 | EHHADH CL E G H | 1962 | 615605 | Fanconi renotubular syndrome 3 | 615605 | C3810100 | OMIM | 1 | | 177 | 3247 | 607037 |
HP:0004322 | HP:0004322 | Short stature | 0 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 178 | 3255 | 604032 |
HP:0004322 | HP:0004322 | Short stature | 0 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 296 | 3255 | 604032 |
HP:0004322 | HP:0004322 | Short stature | 0 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 178 | 3255 | 604032 |
HP:0004322 | HP:0004322 | Short stature | 0 | EIF2AK3 CL E G H | 9451 | 226980 | Wolcott-Rallison dysplasia | 226980 | C0432217 | OMIM | 1 | | 296 | 3255 | 604032 |
HP:0004322 | HP:0004322 | Short stature | 0 | EIF4A3 CL E G H | 9775 | 268305 | Richieri Costa Pereira syndrome | 268305 | C1849348 | OMIM | 1 | | 36 | 18683 | 608546 |
HP:0004322 | HP:0004322 | Short stature | 0 | EIF4A3 CL E G H | 9775 | 268305 | Richieri Costa Pereira syndrome | 268305 | C1849348 | OMIM | 1 | | 38 | 18683 | 608546 |
HP:0004322 | HP:0004322 | Short stature | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 657 | 3327 | 130160 |
HP:0004322 | HP:0004322 | Short stature | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 704 | 3327 | 130160 |
HP:0004322 | HP:0004322 | Short stature | 0 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 657 | 3327 | 130160 |
HP:0004322 | HP:0004322 | Short stature | 0 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 704 | 3327 | 130160 |
HP:0004322 | HP:0004322 | Short stature | 0 | EMG1 CL E G H | 10436 | 1270 | | | | ORPHA | 1 | | 63 | 16912 | 611531 |
HP:0004322 | HP:0004322 | Short stature | 0 | EMG1 CL E G H | 10436 | 1270 | | | | ORPHA | 1 | | 69 | 16912 | 611531 |
HP:0004322 | HP:0004322 | Short stature | 0 | ENPP1 CL E G H | 5167 | 289176 | | | | ORPHA | 1 | | 370 | 3356 | 173335 |
HP:0004322 | HP:0004322 | Short stature | 0 | ENPP1 CL E G H | 5167 | 289176 | | | | ORPHA | 1 | | 386 | 3356 | 173335 |
HP:0004322 | HP:0004322 | Short stature | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0004322 | HP:0004322 | Short stature | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0004322 | HP:0004322 | Short stature | 0 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 801 | 29331 | 615068 |
HP:0004322 | HP:0004322 | Short stature | 0 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1033 | 29331 | 615068 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 106 | 3433 | 126380 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 110 | 3433 | 126380 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 106 | 3433 | 126380 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC1 CL E G H | 2067 | 610758 | Cerebrooculofacioskeletal syndrome 4 | 610758 | C1853100 | OMIM | 1 | | 110 | 3433 | 126380 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC2 CL E G H | 2068 | 601675 | Trichothiodystrophy 1, photosensitive | 601675 | C1866504 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC3 CL E G H | 2071 | 616390 | Trichothiodystrophy 2, photosensitive | 616390 | C4225344 | OMIM | 1 | | 186 | 3435 | 133510 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC3 CL E G H | 2071 | 616390 | Trichothiodystrophy 2, photosensitive | 616390 | C4225344 | OMIM | 1 | | 283 | 3435 | 133510 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 186 | 3435 | 133510 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 283 | 3435 | 133510 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC4 CL E G H | 2072 | 84 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC4 CL E G H | 2072 | 615272 | Fanconi anemia, complementation group Q | 615272 | C3808988 | OMIM | 1 | | 469 | 3436 | 133520 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC4 CL E G H | 2072 | 615272 | Fanconi anemia, complementation group Q | 615272 | C3808988 | OMIM | 1 | | 538 | 3436 | 133520 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 825 | 3438 | 609413 |
HP:0004322 | HP:0004322 | Short stature | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 946 | 3438 | 609413 |
HP:0004322 | HP:0004322 | Short stature | 0 | ESCO2 CL E G H | 157570 | 269000 | Roberts-SC phocomelia syndrome | 269000 | C0392475 | OMIM | 1 | | 342 | 27230 | 609353 |
HP:0004322 | HP:0004322 | Short stature | 0 | ESCO2 CL E G H | 157570 | 269000 | Roberts-SC phocomelia syndrome | 269000 | C0392475 | OMIM | 1 | | 376 | 27230 | 609353 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT1 CL E G H | 2131 | 321 | | | | ORPHA | 1 | | 524 | 3512 | 608177 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT1 CL E G H | 2131 | 321 | | | | ORPHA | 1 | | 648 | 3512 | 608177 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT1 CL E G H | 2131 | 502 | Acromegaloid hypertrichosis syndrome | | | ORPHA | 1 | | 524 | 3512 | 608177 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT1 CL E G H | 2131 | 502 | Acromegaloid hypertrichosis syndrome | | | ORPHA | 1 | | 648 | 3512 | 608177 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT1 CL E G H | 2131 | 133700 | Multiple congenital exostosis | 133700 | C0015306 | OMIM | 1 | | 524 | 3512 | 608177 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT1 CL E G H | 2131 | 133700 | Multiple congenital exostosis | 133700 | C0015306 | OMIM | 1 | | 648 | 3512 | 608177 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT2 CL E G H | 2132 | 321 | | | | ORPHA | 1 | | 379 | 3513 | 608210 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT2 CL E G H | 2132 | 321 | | | | ORPHA | 1 | | 466 | 3513 | 608210 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT2 CL E G H | 2132 | 133701 | Multiple exostoses type 2 | 133701 | C1851413 | OMIM | 1 | | 379 | 3513 | 608210 |
HP:0004322 | HP:0004322 | Short stature | 0 | EXT2 CL E G H | 2132 | 133701 | Multiple exostoses type 2 | 133701 | C1851413 | OMIM | 1 | | 466 | 3513 | 608210 |
HP:0004322 | HP:0004322 | Short stature | 0 | EYA1 CL E G H | 2138 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 367 | 3519 | 601653 |
HP:0004322 | HP:0004322 | Short stature | 0 | EYA1 CL E G H | 2138 | 2792 | Hyperbilirubinemia type 1 | | | ORPHA | 1 | | 404 | 3519 | 601653 |
HP:0004322 | HP:0004322 | Short stature | 0 | FAM111A CL E G H | 63901 | 93325 | | | | ORPHA | 1 | | 64 | 24725 | 615292 |
HP:0004322 | HP:0004322 | Short stature | 0 | FAM111A CL E G H | 63901 | 93325 | | | | ORPHA | 1 | | 79 | 24725 | 615292 |
HP:0004322 | HP:0004322 | Short stature | 0 | FAM111A CL E G H | 63901 | 602361 | Gracile bone dysplasia | 602361 | C1865639 | OMIM | 1 | | 64 | 24725 | 615292 |
HP:0004322 | HP:0004322 | Short stature | 0 | FAM111A CL E G H | 63901 | 602361 | Gracile bone dysplasia | 602361 | C1865639 | OMIM | 1 | | 79 | 24725 | 615292 |
HP:0004322 | HP:0004322 | Short stature | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 245 | 22140 | 611061 |
HP:0004322 | HP:0004322 | Short stature | 0 | FAM20C CL E G H | 56975 | 259775 | Raine syndrome | 259775 | C1850106 | OMIM | 1 | | 291 | 22140 | 611061 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 1 | | 2658 | 3582 | 607139 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCA CL E G H | 2175 | 84 | | | | ORPHA | 1 | | 3146 | 3582 | 607139 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 2658 | 3582 | 607139 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 3146 | 3582 | 607139 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 1 | | 410 | 3583 | 300515 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCB CL E G H | 2187 | 84 | | | | ORPHA | 1 | | 481 | 3583 | 300515 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 1 | | 1079 | 3584 | 613899 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCC CL E G H | 2176 | 84 | | | | ORPHA | 1 | | 1175 | 3584 | 613899 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1079 | 3584 | 613899 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1175 | 3584 | 613899 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 1 | | 729 | 3585 | 613984 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCD2 CL E G H | 2177 | 84 | | | | ORPHA | 1 | | 864 | 3585 | 613984 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 729 | 3585 | 613984 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 864 | 3585 | 613984 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 1 | | 281 | 3586 | 613976 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCE CL E G H | 2178 | 84 | | | | ORPHA | 1 | | 360 | 3586 | 613976 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 281 | 3586 | 613976 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 360 | 3586 | 613976 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 1 | | 245 | 3587 | 613897 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCF CL E G H | 2188 | 84 | | | | ORPHA | 1 | | 312 | 3587 | 613897 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 1 | | 473 | 3588 | 602956 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCG CL E G H | 2189 | 84 | | | | ORPHA | 1 | | 535 | 3588 | 602956 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 1 | | 791 | 25568 | 611360 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCI CL E G H | 55215 | 84 | | | | ORPHA | 1 | | 1040 | 25568 | 611360 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 1 | | 261 | 20748 | 608111 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCL CL E G H | 55120 | 84 | | | | ORPHA | 1 | | 348 | 20748 | 608111 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 1 | | 1179 | 23168 | 609644 |
HP:0004322 | HP:0004322 | Short stature | 0 | FANCM CL E G H | 57697 | 84 | | | | ORPHA | 1 | | 1450 | 23168 | 609644 |
HP:0004322 | HP:0004322 | Short stature | 0 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 227 | 11920 | 134637 |
HP:0004322 | HP:0004322 | Short stature | 0 | FAS CL E G H | 355 | 3437 | | | | ORPHA | 1 | | 275 | 11920 | 134637 |
HP:0004322 | HP:0004322 | Short stature | 0 | FBN1 CL E G H | 2200 | 2084 | | | | ORPHA | 1 | | 4968 | 3603 | 134797 |
HP:0004322 | HP:0004322 | Short stature | 0 | FBN1 CL E G H | 2200 | 2084 | | | | ORPHA | 1 | | 5457 | 3603 | 134797 |
HP:0004322 | HP:0004322 | Short stature | 0 | FBN1 CL E G H | 2200 | 614185 | Geleophysic dysplasia 2 | 614185 | C3280054 | OMIM | 1 | | 4968 | 3603 | 134797 |
HP:0004322 | HP:0004322 | Short stature | 0 | FBN1 CL E G H | 2200 | 614185 | Geleophysic dysplasia 2 | 614185 | C3280054 | OMIM | 1 | | 5457 | 3603 | 134797 |
HP:0004322 | HP:0004322 | Short stature | 0 | FBN1 CL E G H | 2200 | 3449 | Mehes syndrome | | | ORPHA | 1 | | 4968 | 3603 | 134797 |
HP:0004322 | HP:0004322 | Short stature | 0 | FBN1 CL E G H | 2200 | 3449 | Mehes syndrome | | | ORPHA | 1 | | 5457 | 3603 | 134797 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 312 | 3663 | 300546 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 319 | 3663 | 300546 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGF23 CL E G H | 8074 | 193100 | Autosomal dominant hypophosphatemic rickets | 193100 | C0342642 | OMIM | 1 | | 158 | 3680 | 605380 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGF23 CL E G H | 8074 | 193100 | Autosomal dominant hypophosphatemic rickets | 193100 | C0342642 | OMIM | 1 | | 177 | 3680 | 605380 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGF8 CL E G H | 2253 | 280200 | | | | ORPHA | 1 | | 66 | 3686 | 600483 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGF8 CL E G H | 2253 | 280200 | | | | ORPHA | 1 | | 69 | 3686 | 600483 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR1 CL E G H | 2260 | 280200 | | | | ORPHA | 1 | | 530 | 3688 | 136350 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR1 CL E G H | 2260 | 280200 | | | | ORPHA | 1 | | 597 | 3688 | 136350 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR1 CL E G H | 2260 | 147950 | Kallmann syndrome 2 | 147950 | C1563720 | OMIM | 1 | | 530 | 3688 | 136350 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR1 CL E G H | 2260 | 147950 | Kallmann syndrome 2 | 147950 | C1563720 | OMIM | 1 | | 597 | 3688 | 136350 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR1 CL E G H | 2260 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 530 | 3688 | 136350 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR1 CL E G H | 2260 | 3157 | Lachiewicz Sibley syndrome | | | ORPHA | 1 | | 597 | 3688 | 136350 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR2 CL E G H | 2263 | 101400 | Saethre-Chotzen syndrome | 101400 | C0175699 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR2 CL E G H | 2263 | 101400 | Saethre-Chotzen syndrome | 101400 | C0175699 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 541 | 3690 | 134934 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 542 | 3690 | 134934 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 214 | 3693 | 605830 |
HP:0004322 | HP:0004322 | Short stature | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 267 | 3693 | 605830 |
HP:0004322 | HP:0004322 | Short stature | 0 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 1 | | 558 | 16873 | 609390 |
HP:0004322 | HP:0004322 | Short stature | 0 | FIG4 CL E G H | 9896 | 3472 | Meningococcemia | | | ORPHA | 1 | | 649 | 16873 | 609390 |
HP:0004322 | HP:0004322 | Short stature | 0 | FKBP10 CL E G H | 60681 | 259450 | Bruck syndrome 1 | 259450 | C1850168 | OMIM | 1 | | 192 | 18169 | 607063 |
HP:0004322 | HP:0004322 | Short stature | 0 | FKBP10 CL E G H | 60681 | 259450 | Bruck syndrome 1 | 259450 | C1850168 | OMIM | 1 | | 241 | 18169 | 607063 |
HP:0004322 | HP:0004322 | Short stature | 0 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 192 | 18169 | 607063 |
HP:0004322 | HP:0004322 | Short stature | 0 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 241 | 18169 | 607063 |
HP:0004322 | HP:0004322 | Short stature | 0 | FKBP10 CL E G H | 60681 | 610968 | Osteogenesis imperfecta, type XI | 610968 | C3151218 | OMIM | 1 | | 192 | 18169 | 607063 |
HP:0004322 | HP:0004322 | Short stature | 0 | FKBP10 CL E G H | 60681 | 610968 | Osteogenesis imperfecta, type XI | 610968 | C3151218 | OMIM | 1 | | 241 | 18169 | 607063 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1274 | 27310 | 607273 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLCN CL E G H | 201163 | 610883 | Chromosome 17, trisomy 17p11 2 | 610883 | C2931246 | OMIM | 1 | | 1439 | 27310 | 607273 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLI1 CL E G H | 2313 | 2308 | Fetal minoxidil syndrome | | | ORPHA | 1 | | 172 | 3749 | 193067 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLI1 CL E G H | 2313 | 2308 | Fetal minoxidil syndrome | | | ORPHA | 1 | | 174 | 3749 | 193067 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 155 | 3750 | 600362 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 158 | 3750 | 600362 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNA CL E G H | 2316 | 2301 | | | | ORPHA | 1 | | 1893 | 3754 | 300017 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNA CL E G H | 2316 | 2301 | | | | ORPHA | 1 | | 2130 | 3754 | 300017 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNA CL E G H | 2316 | 2484 | Glaucoma type 1C | | | ORPHA | 1 | | 1893 | 3754 | 300017 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNA CL E G H | 2316 | 2484 | Glaucoma type 1C | | | ORPHA | 1 | | 2130 | 3754 | 300017 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNA CL E G H | 2316 | 311300 | Oto-palato-digital syndrome, type I | 311300 | C0265251 | OMIM | 1 | | 1893 | 3754 | 300017 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNA CL E G H | 2316 | 311300 | Oto-palato-digital syndrome, type I | 311300 | C0265251 | OMIM | 1 | | 2130 | 3754 | 300017 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNA CL E G H | 2316 | 304120 | Oto-palato-digital syndrome, type II | 304120 | C1844696 | OMIM | 1 | | 1893 | 3754 | 300017 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNA CL E G H | 2316 | 304120 | Oto-palato-digital syndrome, type II | 304120 | C1844696 | OMIM | 1 | | 2130 | 3754 | 300017 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNB CL E G H | 2317 | 150250 | Larsen syndrome, dominant type | 150250 | C1835564 | OMIM | 1 | | 786 | 3755 | 603381 |
HP:0004322 | HP:0004322 | Short stature | 0 | FLNB CL E G H | 2317 | 150250 | Larsen syndrome, dominant type | 150250 | C1835564 | OMIM | 1 | | 988 | 3755 | 603381 |
HP:0004322 | HP:0004322 | Short stature | 0 | FMR1 CL E G H | 2332 | 261483 | | | | ORPHA | 1 | | 317 | 3775 | 309550 |
HP:0004322 | HP:0004322 | Short stature | 0 | FMR1 CL E G H | 2332 | 261483 | | | | ORPHA | 1 | | 322 | 3775 | 309550 |
HP:0004322 | HP:0004322 | Short stature | 0 | FN1 CL E G H | 2335 | 184255 | Spondylometaphyseal dysplasia - Sutcliffe type | 184255 | C0432221 | OMIM | 1 | | 473 | 3778 | 135600 |
HP:0004322 | HP:0004322 | Short stature | 0 | FN1 CL E G H | 2335 | 184255 | Spondylometaphyseal dysplasia - Sutcliffe type | 184255 | C0432221 | OMIM | 1 | | 609 | 3778 | 135600 |
HP:0004322 | HP:0004322 | Short stature | 0 | FOXE1 CL E G H | 2304 | 95713 | | | | ORPHA | 1 | | 69 | 3806 | 602617 |
HP:0004322 | HP:0004322 | Short stature | 0 | FOXE1 CL E G H | 2304 | 95713 | | | | ORPHA | 1 | | 70 | 3806 | 602617 |
HP:0004322 | HP:0004322 | Short stature | 0 | FOXH1 CL E G H | 8928 | 280200 | | | | ORPHA | 1 | | 206 | 3814 | 603621 |
HP:0004322 | HP:0004322 | Short stature | 0 | FOXH1 CL E G H | 8928 | 280200 | | | | ORPHA | 1 | | 220 | 3814 | 603621 |
HP:0004322 | HP:0004322 | Short stature | 0 | FUCA1 CL E G H | 2517 | 230000 | Fucosidosis | 230000 | C0016788 | OMIM | 1 | | 137 | 4006 | 612280 |
HP:0004322 | HP:0004322 | Short stature | 0 | FUCA1 CL E G H | 2517 | 230000 | Fucosidosis | 230000 | C0016788 | OMIM | 1 | | 188 | 4006 | 612280 |
HP:0004322 | HP:0004322 | Short stature | 0 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0004322 | HP:0004322 | Short stature | 0 | GAS1 CL E G H | 2619 | 280200 | | | | ORPHA | 1 | | 52 | 4165 | 139185 |
HP:0004322 | HP:0004322 | Short stature | 0 | GAS1 CL E G H | 2619 | 280200 | | | | ORPHA | 1 | | 58 | 4165 | 139185 |
HP:0004322 | HP:0004322 | Short stature | 0 | GATA1 CL E G H | 2623 | 190685 | Complete trisomy 21 syndrome | 190685 | C0013080 | OMIM | 1 | | 283 | 4170 | 305371 |
HP:0004322 | HP:0004322 | Short stature | 0 | GATA1 CL E G H | 2623 | 190685 | Complete trisomy 21 syndrome | 190685 | C0013080 | OMIM | 1 | | 304 | 4170 | 305371 |
HP:0004322 | HP:0004322 | |